VHL R177fs (c.528del)

CI-VAR-00003734Explore in graph →NP_000542.1:p.Arg177AspfsTer25NM_000551.3:c.528delCIViC 1907

Curated evidence

Evidence by cancer (5 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–5 of 5 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Von Hippel-Lindau Disease5unmapped disease
VHL R177fs (c.528del)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5167 Genotype-phenotype correlations of 573 VHL patients from 200 kindreds were analyzed. Age-related risks of retinal hemangioblastomas and renal cell carcinoma were higher in patients with nonsense or fr… (full text at CIViC) PMID 17024664 · Ong et al., 2007 · Open in CIViC	civic
VHL R177fs (c.528del)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID5622 64 VHL patients with renal involvement were analyzed. 61 of the 64 patients had a known germline mutation. The above mutation was found in 1 patient. More specifically, the above mutation is believed … (full text at CIViC) PMID 22156657 · Jilg et al., 2012 · Open in CIViC

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.